Rare Diseases Symptoms Automatic Extraction

Characterization of two unique α-globin gene cluster deletions causing α-thalassemia in Israeli Arabs.


The molecular basis of α-thalassemia (α-thal) is complex. The use of multiplex ligation-dependent probe amplification (MLPA) has offered the possibility of identifying more gene deletions causing α-thal. Our objective was to determine the molecular basis of two patients with Hb H (β4) disease. By using MLPA in combination with comparative genomic hybridization (CGH) we identified two novel α-globin gene cluster deletions: a 30kb deletion (patient 1) we refer to as - -(JAL) and a large 216kb deletion (patient 2) we refer to as - -(LOD). Patient 1 was a compound heterozygote for - -(JAL) and -α(3.7) (rightward deletion). Twelve family members of patient 1 carrying the - -(JAL) deletion were available for evaluation: five with - -(JAL)/-α(3.7), four with - -(JAL)/α(Hph I)α and three with - -(JAL)/αα. Their clinical picture of compound heterozygosity was compatible with moderate Hb H disease. In patient 2 (- -(LOD)/-α(3.7)), no additional symptoms were present despite the heterozygous deletion of seven known genes, three non coding RNAs (ncRNAs), four unknown genes and two pseudo genes. Further analysis of more patients with α-thal deletions will have implications for genetic counseling and appropriate therapy.

Diseases presenting "further analysis" symptom

  • adrenomyeloneuropathy
  • alpha-thalassemia
  • erdheim-chester disease
  • esophageal carcinoma
  • monosomy 21
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy

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